Autoinflammatory Disease Panel: Recurrent Fever Syndrome
| Test Information | |
|---|---|
| Test Name | Autoinflammatory Disease Panel: Recurrent Fever Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Immunity |
| Subcategory | Recurrent Fever Syndrome |
| Gene/Platform/Region List | MEFV, MVK, NLRP12, NLRP3, TNFRSF1A |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Exome + targeted microarray |
| Diseases/Conditions | Recurrent Fever Syndrome and Macrophage Activation Syndrome (MAS), Autosomal Dominant Familial Periodic Fever, Blau Syndrome, Cat Eye syndrome, Chronic Infantile Neurological Cutaneous and Articular Syndrome, Cyclic Neutropenia, DADA2 / PAN, Familial Cold Autoinflammatory Syndrome 1, Familial Mediterranean Fever, Hyper IgD Syndrome, Macrophage activation syndrome MAS, Majeed syndrome, Muckle-Wells Syndrome, PAPA (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome), Periodic Fever, Pityriasis Rubra Pilaris (PRP), Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne, Recurrent fever, Severe congenital neutropenia, TRAPS |